Canonical Allele Identifier: CA346662597

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43839107-G-T
• MyVariant Identifiers: chr2:g.44066246G>T (hg19) ; chr2:g.43839107G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839107G>T , CM000664.2:g.43839107G>T	GRCh38
NC_000002.11:g.44066246G>T , CM000664.1:g.44066246G>T	GRCh37
NC_000002.10:g.43919750G>T	NCBI36
NG_008883.1:g.4713C>A
NG_008884.1:g.5144G>T
NG_008884.2:g.12166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.54G>T MANE Select	ENSP00000272286.2:p.Gln18His
ENST00000643284.1:n.521-5400G>T
ENST00000644611.1:c.76-5400G>T	ENSP00000495423.1:n.76-5400G>T
ENST00000272286.2:c.54G>T	ENSP00000272286.2:p.Gln18His
NM_022437.2:c.54G>T	NP_071882.1:p.Gln18His
XM_005264483.2:c.54G>T	XP_005264540.1:p.Gln18His
XM_011533029.1:c.76-5400G>T	XP_011531331.1:n.76-5400G>T
XM_011533030.1:c.76-5400G>T	XP_011531332.1:n.76-5400G>T
XM_011533031.1:c.-153-5400G>T	XP_011531333.1:n.-153-5400G>T
XR_939707.1:n.566-5400G>T
NM_001357321.1:c.54G>T	NP_001344250.1:p.Gln18His
XM_011533029.2:c.76-5400G>T	XP_011531331.1:n.76-5400G>T
XM_011533030.2:c.76-5400G>T	XP_011531332.1:n.76-5400G>T
XR_001738891.1:n.580-5400G>T
XR_939707.2:n.580-5400G>T
NM_022437.3:c.54G>T MANE Select	NP_071882.1:p.Gln18His
NM_001357321.2:c.54G>T	NP_001344250.1:p.Gln18His